Trait
Spinal dysraphism
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Summary
- Also called
- Incomplete closure of the vertebral arch
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test18 genes linked to Spinal dysraphism
Changes in these genes cause rare conditions in which Spinal dysraphism is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| BMS1BMS1 ribosome biogenesis factor | Very often (80–99%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Very often (80–99%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Very often (80–99%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Very often (80–99%) | In 1 condition |
| PLECplectin | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| UBA2ubiquitin like modifier activating enzyme 2 | Very often (80–99%) | In 1 condition |
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Often (30–79%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 1 condition |
| KIF22kinesin family member 22 | Not recorded | In 1 condition |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Not recorded | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Not recorded | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Not recorded | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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